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Zebrafish Fukutin Related Protein (FKRP) Interaktionspartner

Fukutin and FKRP have functions that affect ocular development in zebrafish independently of dystroglycan.

Muscle pathology in embryos lacking Fukutin (zeige FKTN Proteine) or FKRP is different from loss of dystroglycan; knockdown of Fukutin (zeige FKTN Proteine) or FKRP leads to a notochord defect and a perturbation of laminin expression before muscle degeneration.

Zebrafish are a useful animal model to reveal the mechanism of muscular dystrophiescaused by mutations in FKRP gene.

It was found that downregulating FKRP in the zebrafish results in embryos which develop a range of abnormalities reminiscent of the developmental defects observed in human muscular dystrophies associated with mutations in FKRP

Human Fukutin Related Protein (FKRP) Interaktionspartner

This literature review revealed that pathogenic mutations in the FKRP gene in Asian LGMD2I patients are compound heterozygous rather than homozygous.

Next generation and Sanger sequencing were performed for I-2. Heterozygous FKRP mutations were identified in exon 4: c.1167_1168delGC, p.Gly391Leufs *72 and c.501_502GT>CC, p.Arg167Ser, p.Cys168Arg

Fukutin, FKRP, and TMEM5 form a complex while maintaining each of their enzyme activities. Data showed that endogenous fukutin and FKRP enzyme activities coexist with TMEM5 enzyme activity, and suggest the possibility that formation of this enzyme complex may contribute to specific and prompt biosynthesis of glycans that are required for dystroglycan function.

This study have demonstrated that the clinical heterogeneity in LGMD2I patients, homozygous for FKRP c.826C>A, cannot be explained by histopathological alterations, levels of alpha-DG hypoglycosylation or laminin alpha2 depletion.

Mouse (Murine) Fukutin Related Protein (FKRP) Interaktionspartner

This study demonstrated that the Expression of glycosylated alpha-dystroglycan in newborn skeletal and cardiac muscles with FKRP mutation mice.

Reduced Fkrp levels in skeletal muscle are associated with a progressive muscular dystrophy

FKRP mutations are associated with muscular dystrophy.

a reduction in Fkrp influences the ability of tissue-specific forms of alpha-dystroglycan to direct the deposition of several laminin isoforms

investigation of the functional roles of FKRP in muscular dystrophies; FKRP is essential for the functional glycosylation of alpha-dystroglycan;both the mutation itself and the levels of FKRP expression are equally critical for the survival of the animals

data offer the first evidence of a fukutin-related protein (FKRP) complex in muscle and suggest that FKRP may influence the glycosylation status of dystroglycan from within the sarcolemmal dystrophin (zeige DMD Proteine)-glycoprotein complex

results suggest the generation of a mouse model for FKRP related muscular dystrophy requires a knock-down rather than a knock-in strategy in order to give rise to a disease phenotype.

Fukutin Related Protein (FKRP) Protein Überblick

Protein Überblick

This gene encodes a protein which is targeted to the medial Golgi apparatus and is necessary for posttranslational modification of dystroglycan. Mutations in this gene have been associated with congenital muscular dystrophy, mental retardation, and cerebellar cysts. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined.